Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis.

Abstract

Objective. Advances in genome-wide association studies have made possible the return of genetic risk results for complex diseases. Two concerns about these results are: a) negative psychological consequences; and b) viewing probabilistic results as deterministic, leading to misinterpretation and inappropriate decisions. The present study evaluates these concerns through a meta-analytic review of existing literature. Methods. Seventeen genetic testing studies of complex disease, including 1,171 participants and reporting 195 effects, 104 of which were unadjusted for covariates, were meta-analyzed under a random effects model. Diseases included Alzheimer’s, cardiovascular and coronary heart disease, lung cancer, melanoma, thrombophilia, and type II diabetes. Six domains of behavioral/psychological reactions were examined. Results. Carriers showed significantly increased self-reported behavior change compared to non-carriers when assessed six months or later after results return (Hedge’s g = .36, p = .019). Conclusions. Return of genetic testing results for complex disease does not strongly impact self-reported negative behavior or psychological function of at-risk individuals. Return of results does appear to moderately increase self-reported healthy behavior in carriers, although research on objectively observed behavioral change is needed. This is a growing area of research, with preliminary results suggesting potential positive implications of genetic testing for complex disease on behavior change.

Clinical use of current polygenic risk scores may exacerbate health disparities

“…Additionally, integrated models of PRS together with other lifestyle and clinical factors have enabled clinicians to more accurately quantify the risk of heart attack for patients; consequently, they have more effectively targeted the reduction of LDL cholesterol and by extension heart attack by prescribing statins to patients at the greatest overall risk of cardiovascular disease [5][6][7][8][9] . Promisingly, return of genetic risk of complex disease to at-risk patients does not induce significant self-reported negative behavior or psychological function, and some potentially positive behavioral changes have been detected 10 . While we share enthusiasm about the potential of PRS to improve health outcomes through their eventual routine implementation as clinical biomarkers, we consider the consistent observation that they are currently of far greater predictive value in individuals of recent European descent than in others to be the major ethical and scientific challenge surrounding clinical translation and, at present, the most critical limitation to genetics in precision medicine.…”

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

“…Harnessing a global effort to expand genetic studies in both sample size and the scope of phenotypes, with the additional notion of the importance of population diversity 5 , PRS is expected to identify individuals with inborn health risks in clinics. While early detection and appropriate health communication should contribute to the improvement of health care 33 , the inherited genetic risks of disease onset cannot be modified.…”

CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later

“…To date, evidence about the benefits of predictive genetic testing for preventive behaviors for cancer and other diseases has been mixed. While some evidence indicates positive effects, 14 other studies have not demonstrated a benefit of genetic testing on health-promoting behaviors, 15 such as smoking cessation and physical activity. The only experimental study of the impact of genetic test reporting on risk-reduction behaviors for familial melanoma provided some initial evidence of benefit -those in a test-reporting condition (for CDKN2A or the less-penetrant MC1R) reported more recent skin self-examinations compared to those in a usual-care care condition, who received a mailed sun protection pamphlet.…”